Aliases for ALKBH7 Gene

Aliases for ALKBH7 Gene

  • AlkB Homolog 7 2 3 5
  • Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 7, Mitochondrial 3 4
  • Alkylated DNA Repair Protein AlkB Homolog 7 3 4
  • Spermatogenesis-Associated Protein 11 3 4
  • Spermatogenesis Associated 11 2 3
  • SPATA11 3 4
  • ABH7 3 4
  • Probable Alpha-Ketoglutarate-Dependent Dioxygenase ABH7 3
  • Spermatogenesis Cell Proliferation Related Protein 3
  • Spermatogenesis Cell Proliferation-Related Protein 4
  • AlkB, Alkylation Repair Homolog 7 (E. Coli) 2
  • AlkB, Alkylation Repair Homolog 7 3
  • EC 1.14.11.- 4
  • MGC10974 2
  • UNQ6002 3
  • ALKBH7 5

External Ids for ALKBH7 Gene

Previous HGNC Symbols for ALKBH7 Gene

  • SPATA11

Previous GeneCards Identifiers for ALKBH7 Gene

  • GC19P006324
  • GC19P006132

Summaries for ALKBH7 Gene

GeneCards Summary for ALKBH7 Gene

ALKBH7 (AlkB Homolog 7) is a Protein Coding gene. Among its related pathways are Apoptosis and Autophagy and DNA Damage. Gene Ontology (GO) annotations related to this gene include dioxygenase activity.

UniProtKB/Swiss-Prot Summary for ALKBH7 Gene

  • May function as protein hydroxylase; can catalyze auto-hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate (PubMed:25122757). Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death (PubMed:23666923). ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage (PubMed:23666923). Does not display DNA demethylase activity (PubMed:23666923). Involved in fatty acid metabolism (By similarity).

Additional gene information for ALKBH7 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALKBH7 Gene

Genomics for ALKBH7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALKBH7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J006371 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.5 508 3.4 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST LEF1 IKZF1 ZNF692 ALKBH7 RF00017-2774 KHSRP ZNF557 DUS3L SNRPEP4 SAFB RANBP3 GTF2F1 ENSG00000267571
GH19J006198 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 12 -173.4 -173362 2.1 ZNF512 IKZF1 ZNF692 POLR2A BACH1 FOXA1 LARP7 RBFOX2 PKNOX1 PATZ1 ENSG00000284490 LOC105372255 RFX2 lnc-RFX2-1 SAFB2 GTF2F1 CLPP ALKBH7 ACSBG2
GH19J006201 Enhancer 1.2 Ensembl ENCODE dbSUPER 12 -170.8 -170832 0.9 GATAD2A TFE3 FOXA1 RXRB IRF2 GABPA CEBPA FOXK2 SOX13 CEBPB RF00017-2771 CLPP ALKBH7 ENSG00000284490 RFX2 lnc-RFX2-1 MLLT1
GH19J006197 Promoter 0.6 Ensembl 12 -175.3 -175293 0.2 EGR1 HDAC2 KDM1A L3MBTL2 ENSG00000284490 CLPP ALKBH7 LOC105372255 RFX2 lnc-RFX2-1 piR-46625 ACSBG2
GH19J006333 Promoter 0.5 EPDnew 13.4 -39.2 -39181 0.1 DPF2 SMARCE1 ACER1 CLPP ALKBH7 GTF2F1 FJ601684-212 piR-32214-334 MLLT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALKBH7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALKBH7

Top Transcription factor binding sites by QIAGEN in the ALKBH7 gene promoter:
  • AML1a
  • GATA-1
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • YY1

Genomic Locations for ALKBH7 Gene

Genomic Locations for ALKBH7 Gene
chr19:6,372,794-6,375,250
(GRCh38/hg38)
Size:
2,457 bases
Orientation:
Plus strand
chr19:6,372,444-6,375,261
(GRCh37/hg19)
Size:
2,818 bases
Orientation:
Plus strand

Genomic View for ALKBH7 Gene

Genes around ALKBH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALKBH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALKBH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALKBH7 Gene

Proteins for ALKBH7 Gene

  • Protein details for ALKBH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BT30-ALKB7_HUMAN
    Recommended name:
    Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial
    Protein Accession:
    Q9BT30
    Secondary Accessions:
    • B2R4U9
    • Q53FF3

    Protein attributes for ALKBH7 Gene

    Size:
    221 amino acids
    Molecular mass:
    24516 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for ALKBH7 Gene

neXtProt entry for ALKBH7 Gene

Post-translational modifications for ALKBH7 Gene

No Post-translational modifications

Other Protein References for ALKBH7 Gene

No data available for DME Specific Peptides for ALKBH7 Gene

Domains & Families for ALKBH7 Gene

Gene Families for ALKBH7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ALKBH7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALKBH7 Gene

GenScript: Design optimal peptide antigens:
  • Spermatogenesis-associated protein 11 (ALKB7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BT30

UniProtKB/Swiss-Prot:

ALKB7_HUMAN :
  • Belongs to the alkB family.
Family:
  • Belongs to the alkB family.
genes like me logo Genes that share domains with ALKBH7: view

Function for ALKBH7 Gene

Molecular function for ALKBH7 Gene

UniProtKB/Swiss-Prot Function:
May function as protein hydroxylase; can catalyze auto-hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate (PubMed:25122757). Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death (PubMed:23666923). ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage (PubMed:23666923). Does not display DNA demethylase activity (PubMed:23666923). Involved in fatty acid metabolism (By similarity).

Enzyme Numbers (IUBMB) for ALKBH7 Gene

Gene Ontology (GO) - Molecular Function for ALKBH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with ALKBH7: view
genes like me logo Genes that share phenotypes with ALKBH7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALKBH7

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALKBH7 Gene

Localization for ALKBH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALKBH7 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALKBH7 gene
Compartment Confidence
mitochondrion 5
nucleus 2
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALKBH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IEA,IDA 23666923
genes like me logo Genes that share ontologies with ALKBH7: view

Pathways & Interactions for ALKBH7 Gene

PathCards logo

SuperPathways for ALKBH7 Gene

SuperPathway Contained pathways
1 Apoptosis and Autophagy
2 DNA Damage
genes like me logo Genes that share pathways with ALKBH7: view

Pathways by source for ALKBH7 Gene

2 Cell Signaling Technology pathways for ALKBH7 Gene

Gene Ontology (GO) - Biological Process for ALKBH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process IEA,ISS --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 23666923
GO:0010883 regulation of lipid storage IEA,ISS --
GO:0012501 programmed cell death IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALKBH7: view

No data available for SIGNOR curated interactions for ALKBH7 Gene

Drugs & Compounds for ALKBH7 Gene

No Compound Related Data Available

Transcripts for ALKBH7 Gene

mRNA/cDNA for ALKBH7 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALKBH7

Alternative Splicing Database (ASD) splice patterns (SP) for ALKBH7 Gene

No ASD Table

Relevant External Links for ALKBH7 Gene

GeneLoc Exon Structure for
ALKBH7

Expression for ALKBH7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALKBH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for ALKBH7 Gene

This gene is overexpressed in Testis (x7.9).

Protein differential expression in normal tissues from HIPED for ALKBH7 Gene

This gene is overexpressed in Heart (18.4), Urine (10.4), and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALKBH7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALKBH7

SOURCE GeneReport for Unigene cluster for ALKBH7 Gene:

Hs.111099

mRNA Expression by UniProt/SwissProt for ALKBH7 Gene:

Q9BT30-ALKB7_HUMAN
Tissue specificity: Widely expressed, with highest expression in pancreas, followed by spleen, prostate, ovary and placenta.

Evidence on tissue expression from TISSUES for ALKBH7 Gene

  • Liver(4.2)
  • Muscle(2.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with ALKBH7: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALKBH7 Gene

Orthologs for ALKBH7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALKBH7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ALKBH7 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ALKBH7 30 31
  • 91.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ALKBH7 30 31
  • 88.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Alkbh7 30 17 31
  • 80.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Alkbh7 30
  • 79.94 (n)
Lizard
(Anolis carolinensis)
Reptilia ALKBH7 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia alkbh7 30
  • 57.07 (n)
Str.17266 30
Zebrafish
(Danio rerio)
Actinopterygii alkbh7 30 31
  • 57.02 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000760 30
  • 61.04 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14130 30 31
  • 59.28 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y46G5A.35 30
  • 49.16 (n)
Y46G5A.35 31
  • 37 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8958 31
  • 37 (a)
OneToOne
Species where no ortholog for ALKBH7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ALKBH7 Gene

ENSEMBL:
Gene Tree for ALKBH7 (if available)
TreeFam:
Gene Tree for ALKBH7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALKBH7: view image

Paralogs for ALKBH7 Gene

No data available for Paralogs for ALKBH7 Gene

Variants for ALKBH7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALKBH7 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs7540 - p.Arg191Gln

Additional dbSNP identifiers (rs#s) for ALKBH7 Gene

Variation tolerance for ALKBH7 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALKBH7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALKBH7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ALKBH7 Gene

Disorders for ALKBH7 Gene

No disorders were found for ALKBH7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALKBH7 Gene

Publications for ALKBH7 Gene

  1. Human ALKBH7 is required for alkylation and oxidation-induced programmed necrosis. (PMID: 23666923) Fu D … Samson LD (Genes & development 2013) 2 3 4
  2. The atomic resolution structure of human AlkB homolog 7 (ALKBH7), a key protein for programmed necrosis and fat metabolism. (PMID: 25122757) Wang G … Chen Z (The Journal of biological chemistry 2014) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ALKBH7 Gene

Sources for ALKBH7 Gene